A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647575



Internal ID7034315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30878565..30890191hg38UCSC Ensembl
chr22:31274552..31286178hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3811627
hg1911627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16403061
SamplesHG03777
Known GenesOSBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647575
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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